• Clinical and Experimental Reproductive Medicine
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• v.48 no.4
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• pp.283-294
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• 2021

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

• Asian-Australasian Journal of Animal Sciences
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• v.11 no.5
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• pp.463-469
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• 1998

Factor analysis was applied as a multivariate statistical technique to official genetic evaluations of type classification traits for 1,265,785 Holstein cows and 10,321 sires computed from data collected between August 1982 and June 1994 in Canada. Type traits included eighteen linear descriptive traits and eight major score card traits. Principal components of the factor analysis showed that only five factors explain the information of the genetic value of linear descriptive traits for both cows and sires. Factor 1 included traits related to mammary system, like texture, median suspensory, fore attachment, fore teat placement and rear attachment height and width. Factor 2 described stature, size, chest width and pin width. These two factors had a similar pattern for both cows and sires. In constrast, Factor 3 for cows involved only bone-quality, while in addition for sires, Factor 3 included foot angle, rear legs desirability and legs set. Factor 4 for cows related to foot angle, set of rear leg and leg desirability, while Factor 4 related to loin strenth and pin setting for sires. Finally, Factor 5 included loin strength and pin setting for cows and described only pin setting for sires. Two factors only were required to describe score card traits of cows and sires. Factor 1 related to final score, feet and legs, udder traits, mammary system and dairy character, while frame/capacity and rump were described by Factor 2. Communality estimates which determine the proportion of variance of a type trait that is shared with other type traits via the common factor variant were high, the highest ${\geq}$ 80% for final score, stature, size and chest width. Pin width and pin desirability had the lowest communality, 56% and 37%. Results indicated shifts in emphasis over the twelve-year period away from udder traits and dairy character, and towards size, scale and width traits. A new system that computes fmal score from type components has been initiated.

• Korean Journal of Plant Resources
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• v.33 no.6
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• pp.615-623
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• 2020

Brassica rapa is one of the most valuable vegetable crops worldwide. Cultivated varieties of B. rapa exhibit diverse developmental and morphological appearances, which includes important vegetables, oilseeds, and fodder crops. In this study, various phenotypes of recombinant inbred lines (RILs) of B. rapa were investigated, including their responses to five different pathogenic Botrytis cinerea isolates, responses to aphid and thrips during flowering stages, days to flowering, and plant heights. Responses of 113 RILs to five different B. cinerea isolates showed variations, suggesting that genetic factors controlling resistance or tolerance against each isolate were dependent on isolate/genotype pairs. Correlation analysis was performed to understand the nature of genetic factors and the relationship among these phenotypes. Although high levels of correlation were not detected between phenotypes assessed in this study, statistically significant correlation was detected for several combinations. Significant positive correlations were found for different B. cinerea isolates, supporting that certain levels of commonality could exist in genetic components controlling resistance against different B. cinerea isolates. Based on correlation analysis using numbers of insects counted on plants, it was speculated that genetic factors responsible for aphid tolerance or repellence might be also involved in the response against thrips. Relationship between vegetative growth and tolerance against B. cinereal or insects is rather more complicated. However, it was observed that shorter plants appeared to have a certain level of tolerance or repellence against both aphids and thrips. Data presented in this study could be used to assist further genetic studies and breeding efforts to obtain Botritis and insect resistance for B. rapa.

• Genomics & Informatics
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• v.11 no.2
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• pp.83-92
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• 2013

Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest ($h^2$ = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.

• Journal of Korean Society of Industrial and Systems Engineering
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• v.27 no.2
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• pp.102-113
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• 2004

This paper addresses the transportation planning that is based on genetic algorithm for determining transportation time and transportation amount of minimizing cost of distribution system. The vehicle routing of minimizing the transportation distance of vehicle is determined. A distribution system is consisted of a distribution center and many retailers. The model is assumed that the time horizon is discrete and finite, and the demand of retailers is dynamic and deterministic. Products are transported from distribution center to retailers according to transportation planning. Cost factors are the transportation cost and the inventory cost, which transportation cost is proportional to transportation distance of vehicle when products are transported from distribution center to retailers, and inventory cost is proportional to inventory amounts of retailers. Transportation time to retailers is represented as a genetic string. The encoding of the solutions into binary strings is presented, as well as the genetic operators used by the algorithm. A mathematical model is developed. Genetic algorithm procedure is suggested, and a illustrative example is shown to explain the procedure.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.8
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• pp.1222-1226
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• 2002

Estimates of genetic correlation between direct and maternal effects for weaning weight of beef cattle are often negative in field data. The biological existence of this genetic antagonism has been the point at issue. Some researchers perceived such negative estimate to be an artifact from poor modeling. Recent studies on sources affecting the genetic correlation estimates are reviewed in this article. They focus on heterogeneity of the correlation by sex, selection bias caused from selective reporting, selection bias caused from splitting data by sex, sire by year interaction variance, and sire misidentification and inbreeding depression as factors contributing sire by year interaction variance. A biological justification of the genetic antagonism is also discussed. It is proposed to include the direct-maternal genetic covariance in the analytical models.

• Korean Journal of Cleft Lip And Palate
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• v.11 no.2
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• pp.65-70
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• 2008

Cleft lip and/or palate are common birth defects in humans and the causes including multiple genetic and environmental factors are complex. Combinations of genetic, biochemical, and embryological approaches in the laboratory mice are used to investigate the molecular mechanisms underlying normal craniofacial development and the congenital craniofacial malformations including cleft lip and/or palate. Both forward and reverse genetic approaches are used. The forward genetic approach involves identification of causative genes and molecular pathways disrupted by uncharacterized mutations that cause craniofacial malformations including cleft lip and/or cleft palate. The reverse genetic approach involves generation and analyses of mice carrying null or conditional mutations using the Cre-loxP mediated gene targeting techniques.

• KIEE International Transaction on Systems and Control
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• v.12D no.1
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• pp.17-26
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• 2002

In this paper, a new design methodology of the fuzzy controller is presented. The performance of the fuzzy controller is sensitive to the variety of scaling factors. The design procedure is based on evolutionary computing (more specifically, a genetic algorithm) and estimation algorithm to adjust and estimate scaling factors respectively. The tuning of the soiling factors of the fuzzy controller is essential to the entire optimization process. And then we estimate scaling factors of the fuzzy controller by means of two types of estimation algorithms such as HCM (Hard C-Means) and Neuro-Fuzzy model[7]. The validity and effectiveness of the proposed estimation algorithm for the fuzzy controller are demonstrated by the inverted pendulum system.

• Biomolecules & Therapeutics
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• v.24 no.3
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• pp.207-243
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• 2016

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance.

• Asian-Australasian Journal of Animal Sciences
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• v.13 no.10
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• pp.1347-1352
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• 2000

The objectives of the study were to examine non-genetic factors that influence somatic cell counts in dairy cattle and to estimate the genetic parameters of somatic cell counts. A total of 34, 097-test day somatic cell count records were obtained from the Zimbabwe Dairy Services Association (ZDSA). The data were from 5, 615 Holstein daughters of 390 sires and 2, 541 dams tested between May 1994 and December 1998. First lactation cows contributed 22, 147 records to the data set, while 11, 950 records were from second and later parity cows. The model for analysis included fixed effects of month of calving, year of calving, stage of lactation, calving interval and test date. Milk yield and age on test day were fitted in the model as covariates. The additive genetic effects pertaining to cows, sires and dams and the residual error were the random effects. The Average Information Restricted Maximum Likelihood algorithm was used for analysis. The heritability of somatic cell scores was low at $0.027{\pm}0.013$ for parity one cows and $0.087{\pm}0.031$ for parity two and above. Repeatability estimates were $0.22{\pm}0.01$ and $0.30{\pm}0.01$ for the two lactation groups, respectively. Genetic and phenotypic correlations between the somatic cell scores and test day milk production were small and negative. It seems that there is no genetic link between somatic cell counts and milk yield in Holstein cattle in Zimbabwe. The results also seem to indicate that somatic cell count is a trait that is mainly governed by environmental factors.